R101H (p.Arg101His) variant of CASP3 (Caspase-3)
R101H (p.Arg101His) in CASP3 (Caspase-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
R101H (p.Arg101His) variant details
- p.Arg101His
- rs146285839
- ClinGen CA3154054
- ClinVar RCV000897175
- 1000Genomes rs146285839
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0645
- REVEL 0.07
- CADD 1.28
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available